Canonical Allele Identifier: CA2695228152

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111576_11111577insGA , CM000681.2:g.11111576_11111577insGA	GRCh38
NC_000019.9:g.11222252_11222253insGA , CM000681.1:g.11222252_11222253insGA	GRCh37
NC_000019.8:g.11083252_11083253insGA	NCBI36
NG_009060.1:g.27196_27197insGA , LRG_274:g.27196_27197insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1381_1382insGA	ENSP00000252444.6:p.Tyr461Ter
ENST00000559340.2:c.1123_1124insGA	ENSP00000453696.2:p.Tyr375Ter
ENST00000560467.2:c.1003_1004insGA	ENSP00000453513.2:p.Tyr335Ter
ENST00000558518.6:c.1123_1124insGA MANE Select	ENSP00000454071.1:p.Tyr375Ter
ENST00000252444.9:c.1377_1378insGA
ENST00000455727.6:c.619_620insGA	ENSP00000397829.2:p.Tyr207Ter
ENST00000535915.5:c.1000_1001insGA	ENSP00000440520.1:p.Tyr334Ter
ENST00000545707.5:c.742_743insGA	ENSP00000437639.1:p.Tyr248Ter
ENST00000557933.5:c.1123_1124insGA	ENSP00000453557.1:p.Tyr375Ter
ENST00000558013.5:c.1123_1124insGA	ENSP00000453346.1:p.Tyr375Ter
ENST00000558518.5:c.1123_1124insGA	ENSP00000454071.1:p.Tyr375Ter
ENST00000560173.1:n.122_123insGA
ENST00000560467.1:c.603_604insGA
NM_000527.4:c.1123_1124insGA , LRG_274t1:c.1123_1124insGA	NP_000518.1:p.Tyr375Ter
NM_001195798.1:c.1123_1124insGA	NP_001182727.1:p.Tyr375Ter
NM_001195799.1:c.1000_1001insGA	NP_001182728.1:p.Tyr334Ter
NM_001195800.1:c.619_620insGA	NP_001182729.1:p.Tyr207Ter
NM_001195803.1:c.742_743insGA	NP_001182732.1:p.Tyr248Ter
XM_011528010.1:c.1123_1124insGA	XP_011526312.1:p.Tyr375Ter
XM_011528011.1:c.742_743insGA	XP_011526313.1:p.Tyr248Ter
XR_244074.2:n.1273_1274insGA
XM_011528010.2:c.1123_1124insGA	XP_011526312.1:p.Tyr375Ter
XR_001753685.2:n.1240_1241insGA
XR_001753686.2:n.1240_1241insGA
NM_000527.5:c.1123_1124insGA MANE Select	NP_000518.1:p.Tyr375Ter
NM_001195798.2:c.1123_1124insGA	NP_001182727.1:p.Tyr375Ter
NM_001195799.2:c.1000_1001insGA	NP_001182728.1:p.Tyr334Ter
NM_001195800.2:c.619_620insGA	NP_001182729.1:p.Tyr207Ter
NM_001195803.2:c.742_743insGA	NP_001182732.1:p.Tyr248Ter